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Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy
Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death is common. They are included in newborn blood spot s...
Zapisane w:
| Wydane w: | Front Pediatr |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2021
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8017228/ https://ncbi.nlm.nih.gov/pubmed/33816395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.606194 |
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